PMC Links for Nucleotide (Select 1519246072) - PMC

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Items: 17

Select item 65900751.

Reactive cysteine residues in the oxidative dimerization and Cu²⁺ induced aggregation of human γD-crystallin: Implications for age-related cataract

Srinivasagan Ramkumar, Xingjun Fan, Benlian Wang, Sichun Yang, Vincent M. Monnier

Biochim Biophys Acta Mol Basis Dis. Author manuscript; available in PMC 2019 Nov 1.

Published in final edited form as: Biochim Biophys Acta Mol Basis Dis. 2018 Nov; 1864(11): 3595–3604. Published online 2018 Aug 18. doi: 10.1016/j.bbadis.2018.08.021

PMCID:: PMC6590075

Abstract Article PDF–877K

Select item 62408642.

Dynamic disulfide exchange in a crystallin protein in the human eye lens promotes cataract-associated aggregation

Eugene Serebryany, Shuhuai Yu, Sunia A. Trauger, Bogdan Budnik, Eugene I. Shakhnovich

J Biol Chem. 2018 Nov 16; 293(46): 17997–18009. Published online 2018 Sep 21. doi: 10.1074/jbc.RA118.004551

PMCID:: PMC6240864

Abstract Article PDF–1.8M

Select item 3678833.

Gamma-crystallins of the human eye lens: expression analysis of five members of the gene family.

S O Meakin, R P Du, L C Tsui, M L Breitman

Mol Cell Biol. 1987 Aug; 7(8): 2671–2679. doi: 10.1128/mcb.7.8.2671

PMCID:: PMC367883

Summary Page Browse PDF–1.9M

Select item 3668714.

Structural and evolutionary relationships among five members of the human gamma-crystallin gene family.

S O Meakin, M L Breitman, L C Tsui

Mol Cell Biol. 1985 Jun; 5(6): 1408–1414. doi: 10.1128/mcb.5.6.1408

PMCID:: PMC366871

Summary Page Browse PDF–1.4M

Select item 3042345.

A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family.

N H Lubsen, J H Renwick, L C Tsui, M L Breitman, J G Schoenmakers

Proc Natl Acad Sci U S A. 1987 Jan; 84(2): 489–492. doi: 10.1073/pnas.84.2.489

PMCID:: PMC304234

Summary Page Browse PDF–792K

Select item 67076156.

Mutation screening of crystallin genes in Chinese families with congenital cataracts

Jianfu Zhuang, Zongfu Cao, Yihua Zhu, Lijuan Liu, Yi Tong, Xiaole Chen, Yaduan Wang, Cailing Lu, Xu Ma, Juhua Yang

Mol Vis. 2019; 25: 427–437. Published online 2019 Aug 9.

PMCID:: PMC6707615

Abstract Article PDF–2.2M

Select item 48193097.

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts

Han-Yi Min, Peng-Peng Qiao, Asan, Zhi-Hui Yan, Hui-Feng Jiang, Ya-Ping Zhu, Hui-Qian Du, Qin Li, Jia-Wei Wang, Jie Zhang, Jun Sun, Xin Yi, Ling Yang

Chin Med J (Engl) 2016 Apr 5; 129(7): 860–867. doi: 10.4103/0366-6999.178966

PMCID:: PMC4819309

Abstract Article PDF–2.8M

Select item 33408568.

Epidemiology and molecular genetics of congenital cataracts

Jun Yi, Jun Yun, Zhi-Kui Li, Chang-Tai Xu, Bo-Rong Pan

Int J Ophthalmol. 2011; 4(4): 422–432. Published online 2011 Aug 18. doi: 10.3980/j.issn.2222-3959.2011.04.20

PMCID:: PMC3340856

Abstract Article PDF–3.1M

Select item 33390389.

A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract

Kai Jie Wang, Si Quan Zhu

Mol Vis. 2012; 18: 968–973. Published online 2012 Apr 18.

PMCID:: PMC3339038

Abstract Article PDF–1.1M

Select item 315678110.

A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family

Zhenfei Yang, Qian Li, Zicheng Ma, Yuanyuan Guo, Siquan Zhu, Xu Ma

Mol Vis. 2011; 17: 2065–2071. Published online 2011 Aug 5.

PMCID:: PMC3156781

Abstract Article PDF–6.9M

Select item 308179511.

A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family

Li Wang, Xueli Chen, Yi Lu, Jihong Wu, Boqi Yang, Xinghuai Sun

Mol Vis. 2011; 17: 804–809. Published online 2011 Mar 26.

PMCID:: PMC3081795

Abstract Article PDF–1.0M

Select item 302157212.

A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family

Kai Jie Wang, Sha Sha Li, Bo Yun, Wen Xian Ma, Tian Ge Jiang, Si Quan Zhu

Mol Vis. 2011; 17: 70–77. Published online 2011 Jan 8.

PMCID:: PMC3021572

Abstract Article PDF–2.1M

Select item 287525713.

A novel human CRYGD mutation in a juvenile autosomal dominant cataract

Mascarenhas Roshan, Pai H. Vijaya, G. Rao Lavanya, Prasada K. Shama, S.T. Santhiya, Jochen Graw, P.M. Gopinath, K. Satyamoorthy

Mol Vis. 2010; 16: 887–896. Published online 2010 May 22.

PMCID:: PMC2875257

Abstract Article PDF–1.5M

Select item 283140714.

Identification and functional clustering of global gene expression differences between human age-related cataract and clear lenses

John R. Hawse, James F. Hejtmancik, Quingling Huang, Nancy L. Sheets, Douglas A. Hosack, Richard A. Lempicki, Joseph Horwitz, Marc Kantorow

Mol Vis. Author manuscript; available in PMC 2010 Mar 3.

Published in final edited form as: Mol Vis. 2003 Oct 7; 9: 515–537. Published online 2003 Oct 7.

PMCID:: PMC2831407

Abstract Article PDF–1.2M

Select item 243516115.

A mutation in GJA8 (p.P88Q) is associated with “balloon-like” cataract with Y-sutural opacities in a family of Indian origin

Vanita Vanita, Jai Rup Singh, Daljit Singh, Raymonda Varon, Karl Sperling

Mol Vis. 2008; 14: 1171–1175. Published online 2008 Jun 17.

PMCID:: PMC2435161

Abstract Article PDF–1.8M

Select item 228848716.

Congenital Cataracts and their Molecular Genetics

J. Fielding Hejtmancik

Semin Cell Dev Biol. Author manuscript; available in PMC 2009 Apr 1.

Published in final edited form as: Semin Cell Dev Biol. 2008 Apr; 19(2): 134–149. Published online 2007 Oct 10. doi: 10.1016/j.semcdb.2007.10.003

PMCID:: PMC2288487

Abstract Article PDF–611K

Select item 150909917.

Radiation hybrid mapping of cataract genes in the dog

Linda S. Hunter, Duska J. Sidjanin, Jennifer L. Johnson, Barbara Zangerl, Francis Galibert, Catherine Andre, Ewen Kirkness, Elijah Talamas, Gregory M. Acland, Gustavo D. Aguirre

Mol Vis. Author manuscript; available in PMC 2006 Jul 16.

Published in final edited form as: Mol Vis. 2006 May 24; 12: 588–596. Published online 2006 May 24.